Thalassemia
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Diagnosis & Tests

How is thalassemia diagnosed?

If your doctor thinks you or your child might have thalassemia, he’ll do a physical exam and ask about your medical history. Thalassemia can only be diagnosed with blood tests. Doctors use several different types of blood tests to look for thalassemia. Some tests measure the number and size of red blood cells, or the amount of iron in the blood. Others look at the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged.